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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Staff
Dr. Daniel Gilchrist is a program director of Computational Genomics and Data Science in NHGRI's Division of Genome Science.
… computational biology, functional DNA elements, disease-linked genomic variants … Daniel Gilchrist, … computational biology, functional DNA elements, disease-linked genomic variants … Dr. Daniel Gilchrist is a …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… definitively associated with the most common form of the disease. The work was funded by the National Human Genome … reporting to physicians. Published papers reporting gene-disease associations vary widely in their study design and … evidence to support disease causation only creates a risk of inappropriately interpreting the genetic information …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… 1:00 PM Webinar: Ancient Genetic Clues into Modern Human Disease Traditionally used to elucidate human evolutionary …
Research Funding
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility.
… the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing … gene function, phenotypic alleles and variants, human disease associations, pathways, gene expression, and both … and cellular mechanisms underlying human biology and disease and to translate mechanistic insights from studies in …
News Release
Experts discussed the gaps, challenges and opportunities in genomics at Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio, sponsored by NHGRI.
… genomics improves doctors' ability to diagnose and treat disease, but genomics must first be implemented into medical … in genes and the regions between the genes - in disease may go a long way in supporting the use of genomic … variants could help doctors evaluate individual disease risk, make better diagnoses and provide tailored treatments …
Research Funding
NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively explore the feasibility of Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease.
… as, genomics translational research tools developed with disease expert involvement from the design through … how individuals with pathogenic genetic variants manifest disease. The ML/AI tools will leverage existing multimodal … how individuals with pathogenic genetic variants manifest disease. … NHGRI aims to establish a research Consortium, …
Staff
Heather Colley is a Lead Research Training and Career Development Program Officer at the National Human Genome Research Institute.
Staff
Dr. Simona Volpi is the deputy director of the Division of Genomic Medicine at the National Human Genome Research Institute.
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News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
… to work together can be important for understanding disease," said Mike Pazin, Ph.D., a program director in the … the role of genomic differences in human health and disease." With these new grants, researchers will study gene … that are altered by these variants, which increase the risk for a disease. "Knowing the interconnections of these …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… network is to better understand the genomic basis of disease and to tailor medical care to individual patients … to examine rare and common variants suspected to relate to disease risk and treatment effects," said Rongling Li, M.D., Ph.D., …